Canonical Allele Identifier: CA362978644
Gene: ALDH5A1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.24528103A>T , CM000668.2:g.24528103A>T GRCh38
NC_000006.11:g.24528331A>T , CM000668.1:g.24528331A>T GRCh37
NC_000006.10:g.24636310A>T NCBI36
NG_008161.1:g.38135A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000357578.8:c.1280A>T MANE Select ENSP00000350191.3:p.Asn427Ile
ENST00000479394.2:n.395A>T
ENST00000672352.1:c.899A>T ENSP00000500876.1:p.Asn300Ile
ENST00000672652.1:c.1243A>T
ENST00000348925.2:c.1319A>T ENSP00000314649.3:p.Asn440Ile
ENST00000357578.7:c.1280A>T ENSP00000350191.3:p.Asn427Ile
ENST00000479394.1:n.395A>T
ENST00000491546.5:c.1196A>T ENSP00000417687.1:p.Asn399Ile
NM_001080.3:c.1280A>T MANE Select NP_001071.1:p.Asn427Ile
NM_170740.1:c.1319A>T NP_733936.1:p.Asn440Ile
NM_001368954.1:c.1136A>T NP_001355883.1:p.Asn379Ile